Variant report

Variant	rs8085013
Chromosome Location	chr18:12881909-12881910
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12862494..12865307-chr18:12880258..12883236,3	MCF-7	breast:
2	chr18:12880282..12885478-chr18:12946145..12950206,8	K562	blood:
3	chr18:12699803..12702594-chr18:12881299..12884040,2	K562	blood:
4	chr18:12833814..12836436-chr18:12879380..12882256,2	MCF-7	breast:
5	chr18:12880787..12883002-chr4:37479463..37481440,2	MCF-7	breast:
6	chr18:12702487..12704134-chr18:12881395..12884232,2	MCF-7	breast:
7	chr18:12699667..12702594-chr18:12881299..12884281,3	K562	blood:
8	chr18:12880282..12884361-chr18:12946145..12949673,9	K562	blood:
9	chr18:12880723..12883598-chr18:12902234..12904693,2	K562	blood:
10	chr18:12808897..12811465-chr18:12881476..12883993,2	MCF-7	breast:
11	chr18:12712618..12714597-chr18:12880301..12882265,2	K562	blood:
12	chr18:12881395..12884200-chr18:12946697..12949759,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128789	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000101624	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16939922	1.00[AMR][1000 genomes]
rs57491167	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7232191	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404475	0.90[AMR][1000 genomes]
rs8084146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8084203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8091049	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
6	nsv909407	chr18:12877060-12917703	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12863600-12882000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:12865800-12883000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:12875600-12882800	Enhancers	Primary B cells from peripheral blood	blood
4	chr18:12875800-12882000	Weak transcription	HSMM	muscle
5	chr18:12876000-12882000	Weak transcription	Fetal Intestine Large	intestine
6	chr18:12877600-12882200	Weak transcription	Fetal Heart	heart
7	chr18:12877800-12882400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr18:12878000-12882600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr18:12878200-12882400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr18:12878400-12882000	Enhancers	HepG2	liver
11	chr18:12878600-12882600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr18:12878600-12882600	Enhancers	Duodenum Mucosa	Duodenum
13	chr18:12878600-12882800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr18:12878600-12882800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr18:12878800-12882400	Flanking Active TSS	GM12878-XiMat	blood
16	chr18:12878800-12882600	Enhancers	Primary T cells from cord blood	blood
17	chr18:12878800-12882600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr18:12878800-12882600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr18:12878800-12882600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr18:12878800-12882800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr18:12879000-12882600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr18:12879000-12882800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr18:12879200-12882000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr18:12879200-12882000	Enhancers	HMEC	breast
25	chr18:12879200-12882800	Enhancers	Liver	Liver
26	chr18:12879600-12882000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr18:12879600-12882200	Weak transcription	Fetal Kidney	kidney
28	chr18:12879600-12882800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr18:12879600-12883200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr18:12879800-12882200	Enhancers	Pancreas	Pancrea
31	chr18:12879800-12882400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr18:12879800-12882600	Enhancers	Primary hematopoietic stem cells	blood
33	chr18:12879800-12882800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr18:12879800-12882800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr18:12880000-12882200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr18:12880000-12882600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr18:12880000-12882600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:12880200-12882600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr18:12880400-12882000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr18:12880400-12882000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:12880400-12882400	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
42	chr18:12880400-12882600	Weak transcription	Stomach Mucosa	stomach
43	chr18:12880400-12883000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr18:12880600-12882600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr18:12880600-12882800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr18:12880600-12883000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr18:12880600-12883000	Weak transcription	Left Ventricle	heart
48	chr18:12880800-12882800	Enhancers	Primary B cells from cord blood	blood
49	chr18:12880800-12882800	Weak transcription	Colonic Mucosa	Colon
50	chr18:12881000-12882000	Weak transcription	Colon Smooth Muscle	Colon

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